Dear Friends, Family, and Kind Strangers,
As parents, we all want to keep our children safe, but for us, that task is filled with uncertainty. Our beautiful Sophia Bryn, also known as Pip, was born on January 16, 2023. On her fourth day of life and first night at home we received a call at 3 AM from the Children's Hospital of Pittsburgh. Her newborn screening had come back as positive for MCADD, a rare genetic disorder.
What is MCADD?
Medium-chain acyl-coenzyme A dehydrogenase MCAD deficiency is an inherited genetic disorder that prevents the body from breaking down certain fats and turning them into energy. If MCADD is left untreated, it can lead to severe lack of energy, tiredness, liver disease, seizures, coma, and other serious health problems. Also the level of sugar in the blood can drop dangerously low, leading to hypoglycemia. A metabolic crisis can be caused by common illnesses, high fever, GI issues, exposure to high/low temperatures, intense exercise, or prolonged fasting.
We do everything we can to protect her, but no matter how vigilant we are, there are moments when we feel powerless. That is why we are asking for your help today to provide Pip with a specially trained service dog that could truly change her life.
Why a service dog?
- A service dog will build Sophia's confidence and will help Sophia introduce herself and her diagnosis.
-A service dog will be utilized to alert us or Sophia when her blood sugar is getting low or when she may be showing signs of a metabolic crisis so we are able to manage things a bit more efficiently.
We are working with 4 Paws for Ability for the training and raising of the service dog. Our portion to receive a service dog is $23,000. We believe with your generosity, we can reach this goal together. Every contribution, no matter the size, brings us closer to providing this life-saving gift to our daughter.
If you are unable to donate, sharing our story with others would so much to us. We are endlessly grateful for any support, whether it is financial, emotional, or simply helping us spread the word.
Thank you so much for taking the time to read our story. Your kindness will make a profound difference in Sophia's life.
With love and gratitude,
Shelly, Joey, Cecilia, and Sophia Budz